Hormone therapy in Fanconi anemia
نویسنده
چکیده
Introduction: Fanconi anemia (FA) is a genetic condition with extreme cancer predisposition resulting from abnormalities in repair of DNA breakage and crosslinks. Children with FA develop bone marrow failure (BMF) that is treated with androgen or hematopoietic cell transplantation, and are at risk for developing acute myeloid leukemia. In adulthood, persons with FA commonly develop squamous cell carcinomas of the head, neck or gynecological tract. Endocrine problems are common in FA. Areas covered: Chromosomal breakage may lead to apoptosis of endocrine secretory cells. About 80% of children and adults with FA have at least one endocrine abnormality, and benefit from thyroid hormone therapy and vitamin D therapy. Some benefit from growth hormone therapy. Metformin may be beneficial if overweight develops, in view of the underlying insulin deficiency in FA. Estrogen or testosterone therapy is often required to complete pubertal development. Expert opinion: Individuals with FA should be routinely screened for endocrine abnormalities, and when found to have hormone deficiencies, they should be treated with standard endocrine therapy. Research is needed to address a number of limitations and gaps in knowledge regarding mechanisms of endocrine deficiencies, safety/efficacy of endocrine therapies, and prevention of oxidative injury to DNA.
منابع مشابه
Fanconi Anemia Concurrent with an Unusual Thumb Polydactyly: A Case Report
This case report presents a case of Fanconi’s Anemia with an unusual thumb polydactyly in a 2-year old boy. The extra thumb had no nail, nail bed and distal phalanx. The extra thumb had no active motion.The duplication of the thumb occurred at the carpometacarpal joint but its morphology did not match with any classification described for thumb polydactyly. Although his thumb polydactyly was ...
متن کاملFrequency of Hypothyroidism in Fanconi Anemia
Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...
متن کاملبررسی بالینی و بقای 36 کودک مبتلا به آنمی فانکونی
Fanconi anemia is the most prevalent form of inherited aplastic anemia which is characterized by progressive bone marrow failure, congenital anomalies and cancer susceptibility. Common anomalies are skeletal abnormalities, skin pigmentation disorder, short stature, head abnormalities, kidney and gonad disorders respectively. Complications of fanconi anemia include: leukemia due to defective DNA...
متن کاملگزارش یک مورد اسکواموس سل کارسینوما در یک زن جوان با سابقه آنمی فانکونی (Fanconi's anemia)
Fanconi syndrome was first described in 1927 by G.Fanconi. Fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood Pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2015